Definition In most cases, a pseudogene can be considered as the ancient extra copy of a preexisting protein-coding gene (called parental gene), that undergoes a process of pseudogenization by disruption to its sequence due to accumulation of deleterious mutations. The result is usually a ‘nonfunctional gene’ with high sequence homology with the parental gene.
Recommended panel testing at Breda Genetics for this condition: Lysosomal acid lipase deficiency (Wolman/CESD) and its differential diagnosis (LIPA, SMPD1, GBA, LDLR, APOB, PCSK9, LDLRAP1). Summary Lysosomal acid lipase deficiency is caused by homozygous or compound heterozygous mutation in the LIPA gene. Lysosomal acid lipase deficiency is predominantly a pediatric disease, although milder forms of
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